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AAV-based gene replacement reverses Neurexin-2 downregulation in the cerebellum of a mouse model of phosphomannomutase 2 deficiency (PMM2-CDG)

2025-08-14

Abstract excerpt

Phosphomannomutase 2 (PMM2) deficiency is the most common congenital disorders of glycosylation (CDG) with an estimated incidence ranging from 1:20,000 to 1:80,000. Patients manifest a broad spectrum of clinical manifestations, with neurological deficits often emerging as the earliest sign, and may progress to severe multi-organ dysfunction. Mortality reaches 20% by the age of six, primarily due to severe infectio...

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Literature Corpus work: 151d8b76-53c5-5753-939c-73effc6f2bc3
DOI: 10.1101/2025.08.11.669733

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